Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011472	HP:0011472	Abnormality of small intestinal villus morphology	0	ADAM17 CL E G H	6868	195	OMIM:614328	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1		2
HP:0011472	HP:0011472	Abnormality of small intestinal villus morphology	0	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id		37
HP:0011472	HP:0011472	Abnormality of small intestinal villus morphology	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG		93
HP:0011472	HP:0011472	Abnormality of small intestinal villus morphology	0	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II		118
HP:0011472	HP:0011472	Abnormality of small intestinal villus morphology	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0011472	HP:0011472	Abnormality of small intestinal villus morphology	0	DGAT1 CL E G H	8694	2843	OMIM:615863	Diarrhea 7, protein-losing Enteropathy type		9
HP:0011472	HP:0011472	Abnormality of small intestinal villus morphology	0	EPCAM CL E G H	4072	11529	ORPHA:92050	Congenital tufting enteropathy		170
HP:0011472	HP:0011472	Abnormality of small intestinal villus morphology	0	EPCAM CL E G H	4072	11529	OMIM:613217	Diarrhea 5, with tufting enteropathy, congenital		170
HP:0011472	HP:0011472	Abnormality of small intestinal villus morphology	0	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0011472	HP:0011472	Abnormality of small intestinal villus morphology	0	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0011472	HP:0011472	Abnormality of small intestinal villus morphology	0	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0011472	HP:0011472	Abnormality of small intestinal villus morphology	0	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib		51
HP:0011472	HP:0011472	Abnormality of small intestinal villus morphology	0	MYO5B CL E G H	4645	7603	OMIM:251850	Diarrhea 2, with microvillous atrophy		192
HP:0011472	HP:0011472	Abnormality of small intestinal villus morphology	0	MYO5B CL E G H	4645	7603	ORPHA:2290	Microvillus inclusion disease	HP:0040282 - Frequent	192
HP:0011472	HP:0011472	Abnormality of small intestinal villus morphology	0	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC		30
HP:0011472	HP:0011472	Abnormality of small intestinal villus morphology	0	PCSK1 CL E G H	5122	8743	OMIM:600955	Proprotein convertase 1/3 deficiency		65
HP:0011472	HP:0011472	Abnormality of small intestinal villus morphology	0	PERCC1 CL E G H	105371045	52293	ORPHA:92050	Congenital tufting enteropathy
HP:0011472	HP:0011472	Abnormality of small intestinal villus morphology	0	PERCC1 CL E G H	105371045	52293	OMIM:618662	DIARRHEA 11, MALABSORPTIVE, CONGENITAL; DIAR11
HP:0011472	HP:0011472	Abnormality of small intestinal villus morphology	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0011472	HP:0011472	Abnormality of small intestinal villus morphology	0	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II		38
HP:0011472	HP:0011472	Abnormality of small intestinal villus morphology	0	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II		26
HP:0011472	HP:0011472	Abnormality of small intestinal villus morphology	0	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II		34
HP:0011472	HP:0011472	Abnormality of small intestinal villus morphology	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0011472	HP:0011472	Abnormality of small intestinal villus morphology	0	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2
HP:0011472	HP:0011472	Abnormality of small intestinal villus morphology	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0011472	HP:0011472	Abnormality of small intestinal villus morphology	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0011472	HP:0011472	Abnormality of small intestinal villus morphology	0	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome		100
HP:0011472	HP:0011472	Abnormality of small intestinal villus morphology	0	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome		89
HP:0011472	HP:0011472	Abnormality of small intestinal villus morphology	0	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C		89
HP:0011472	HP:0011472	Abnormality of small intestinal villus morphology	0	STX3 CL E G H	6809	11438	OMIM:619445	DIARRHEA 12, WITH MICROVILLUS ATROPHY; DIAR12		1
HP:0011472	HP:0011472	Abnormality of small intestinal villus morphology	0	STX3 CL E G H	6809	11438	ORPHA:2290	Microvillus inclusion disease	HP:0040282 - Frequent	1
HP:0011472	HP:0011472	Abnormality of small intestinal villus morphology	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0011472	HP:0011472	Abnormality of small intestinal villus morphology	0	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0011472	HP:0011472	Abnormality of small intestinal villus morphology	0	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0011472	HP:0011472	Abnormality of small intestinal villus morphology	0	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0011472	HP:0011472	Abnormality of small intestinal villus morphology	0	WNT2B CL E G H	7482	12781	OMIM:618168	Diarrhea 9		1
HP:0011472	HP:0011473	Villous atrophy	1	ADAM17 CL E G H	6868	195	OMIM:614328	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1		2
HP:0011472	HP:0011473	Villous atrophy	1	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id	.	37
HP:0011472	HP:0011473	Villous atrophy	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0011472	HP:0011473	Villous atrophy	1	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II	.	118
HP:0011472	HP:0011473	Villous atrophy	1	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0011472	HP:0011473	Villous atrophy	1	DGAT1 CL E G H	8694	2843	OMIM:615863	Diarrhea 7, protein-losing Enteropathy type	.	9
HP:0011472	HP:0011473	Villous atrophy	1	EPCAM CL E G H	4072	11529	ORPHA:92050	Congenital tufting enteropathy	HP:0040281 - Very frequent	170
HP:0011472	HP:0011473	Villous atrophy	1	EPCAM CL E G H	4072	11529	OMIM:613217	Diarrhea 5, with tufting enteropathy, congenital	.	170
HP:0011472	HP:0011473	Villous atrophy	1	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0011472	HP:0011473	Villous atrophy	1	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0011472	HP:0011473	Villous atrophy	1	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0011472	HP:0011473	Villous atrophy	1	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib	.	51
HP:0011472	HP:0011473	Villous atrophy	1	MYO5B CL E G H	4645	7603	OMIM:251850	Diarrhea 2, with microvillous atrophy	.	192
HP:0011472	HP:0011473	Villous atrophy	1	MYO5B CL E G H	4645	7603	ORPHA:2290	Microvillus inclusion disease	HP:0040282 - Frequent	192
HP:0011472	HP:0011473	Villous atrophy	1	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC		30
HP:0011472	HP:0011473	Villous atrophy	1	PCSK1 CL E G H	5122	8743	OMIM:600955	Proprotein convertase 1/3 deficiency	.	65
HP:0011472	HP:0011473	Villous atrophy	1	PERCC1 CL E G H	105371045	52293	ORPHA:92050	Congenital tufting enteropathy	HP:0040281 - Very frequent
HP:0011472	HP:0011473	Villous atrophy	1	PERCC1 CL E G H	105371045	52293	OMIM:618662	DIARRHEA 11, MALABSORPTIVE, CONGENITAL; DIAR11
HP:0011472	HP:0011473	Villous atrophy	1	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0011472	HP:0011473	Villous atrophy	1	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II	.	38
HP:0011472	HP:0011473	Villous atrophy	1	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II	.	26
HP:0011472	HP:0011473	Villous atrophy	1	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II	.	34
HP:0011472	HP:0011473	Villous atrophy	1	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0011472	HP:0011473	Villous atrophy	1	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2	.
HP:0011472	HP:0011473	Villous atrophy	1	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0011472	HP:0011473	Villous atrophy	1	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0011472	HP:0011473	Villous atrophy	1	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome	.	100
HP:0011472	HP:0011473	Villous atrophy	1	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent	89
HP:0011472	HP:0011473	Villous atrophy	1	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C	HP:0040283 - Occasional	89
HP:0011472	HP:0011473	Villous atrophy	1	STX3 CL E G H	6809	11438	OMIM:619445	DIARRHEA 12, WITH MICROVILLUS ATROPHY; DIAR12		1
HP:0011472	HP:0033996	Microvillar PAS-positive secretory granules	1	STX3 CL E G H	6809	11438	OMIM:619445	DIARRHEA 12, WITH MICROVILLUS ATROPHY; DIAR12		1
HP:0011472	HP:0033995	Microvillus inclusions	1	STX3 CL E G H	6809	11438	OMIM:619445	DIARRHEA 12, WITH MICROVILLUS ATROPHY; DIAR12		1
HP:0011472	HP:0011473	Villous atrophy	1	STX3 CL E G H	6809	11438	ORPHA:2290	Microvillus inclusion disease	HP:0040282 - Frequent	1
HP:0011472	HP:0011473	Villous atrophy	1	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0011472	HP:0011473	Villous atrophy	1	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent
HP:0011472	HP:0011473	Villous atrophy	1	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0011472	HP:0011473	Villous atrophy	1	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0011472	HP:0011473	Villous atrophy	1	WNT2B CL E G H	7482	12781	OMIM:618168	Diarrhea 9		1